mutLBSgeneDB |
Gene summary for GPT2 |
Gene summary |
Basic gene Info. | Gene symbol | GPT2 |
Gene name | glutamic pyruvate transaminase (alanine aminotransferase) 2 | |
Synonyms | ALT2 | |
Cytomap | UCSC genome browser: 16q12.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001142466.1, NM_133443.2, | |
Description | GPT 2alanine aminotransferase 2glutamate pyruvate transaminase 2glutamic--alanine transaminase 2glutamic--pyruvic transaminase 2glutamic-pyruvate transaminase 2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 138210 | |
HGNC : HGNC | ||
Ensembl : ENSG00000166123 | ||
HPRD : 06307 | ||
Vega : OTTHUMG00000132541 | ||
Protein | UniProt: Q8TD30 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GPT2 | |
BioGPS: 84706 | ||
Pathway | NCI Pathway Interaction Database: GPT2 | |
KEGG: GPT2 | ||
REACTOME: GPT2 | ||
Pathway Commons: GPT2 | ||
Context | iHOP: GPT2 | |
ligand binding site mutation search in PubMed: GPT2 | ||
UCL Cancer Institute: GPT2 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0006103 | 2-oxoglutarate metabolic process | 11863375 | GO:0042851 | L-alanine metabolic process | 11863375 |
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Ligand binding site mutations for GPT2 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | V301 | V301E | LUSC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for GPT2 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | V301 | V301E | -1.8037385 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for GPT2 from PDB |
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Differential gene expression and gene-gene network for GPT2 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for GPT2 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for GPT2 |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Nutraceutical | DB00114 | Pyridoxal Phosphate | Small molecule | |
Nutraceutical | DB00142 | L-Glutamic Acid | Small molecule | |
Approved|nutraceutical | DB00160 | L-Alanine | Small molecule | |
Approved | DB00780 | Phenelzine | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of GPT2 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PLP | PYRIDOXAL 5'-PHOSPHATE | 3ihj | A | V301 |
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Conservation information for LBS of GPT2 |
Multiple alignments for Q8TD30 in multiple species |
LBS | AA sequence | # species | Species | A187 | YLTTGASDGIS | 2 | Homo sapiens, Mus musculus | A187 | YLTSGASHAAR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A187 | FLTDGASPAVH | 1 | Arabidopsis thaliana | A187 | FMTDGASPGVH | 1 | Arabidopsis thaliana | A187 | FLTAGASAAVN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D299 | LFLLADEVYQD | 2 | Homo sapiens, Mus musculus | D299 | LVLLADEVYQE | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D299 | IVLLADEVYQN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D299 | TVVIADEVYQE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G186 | IYLTTGASDGI | 2 | Homo sapiens, Mus musculus | G186 | IYLTSGASHAA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G186 | IFLTDGASPAV | 1 | Arabidopsis thaliana | G186 | IFMTDGASPGV | 1 | Arabidopsis thaliana | G186 | IFLTAGASAAV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I267 | KVLCIINPGNP | 2 | Homo sapiens, Mus musculus | I267 | RLCVVINPGNP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I267 | RALVVINPGNP | 1 | Arabidopsis thaliana | I267 | RALAVINPGNP | 1 | Arabidopsis thaliana | I267 | TVLVVINPGNP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K341 | FHSTSKGYMGE | 2 | Homo sapiens, Mus musculus | K341 | FQSVSKGYYGE | 2 | Arabidopsis thaliana, Arabidopsis thaliana | K341 | VNSVSKGQFGE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K341 | LHSTSKGVSGE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N271 | IINPGNPTGQV | 2 | Homo sapiens, Mus musculus | N271 | VINPGNPTGQV | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N271 | VINPGNPTGAC | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N271 | VINPGNPTGAV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R350 | GECGYRGGYME | 2 | Homo sapiens, Mus musculus | R350 | GECGKRGGYME | 2 | Arabidopsis thaliana, Arabidopsis thaliana | R350 | GECGQRGGYLD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R350 | GECGQRGGYME | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S188 | LTTGASDGIST | 2 | Homo sapiens, Mus musculus | S188 | LTSGASHAARL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S188 | LTDGASPAVHM | 1 | Arabidopsis thaliana | S188 | MTDGASPGVHM | 1 | Arabidopsis thaliana | S188 | LTAGASAAVNY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S338 | LASFHSTSKGY | 2 | Homo sapiens, Mus musculus | S338 | LVSFQSVSKGY | 2 | Arabidopsis thaliana, Arabidopsis thaliana | S338 | LISVNSVSKGQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S338 | LASLHSTSKGV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V301 | LLADEVYQDNV | 2 | Homo sapiens, Mus musculus | V301 | LLADEVYQENV | 2 | Arabidopsis thaliana, Arabidopsis thaliana | V301 | LLADEVYQNNI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V301 | VIADEVYQENI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y216 | IPIPQYPLYSA | 2 | Homo sapiens, Mus musculus | Y216 | VPAPQYPLYGA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y216 | SPIPQYPLYSA | 1 | Arabidopsis thaliana | Y216 | CPIPQYPLYSA | 1 | Arabidopsis thaliana | Y216 | IPIPQYPLYTA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y302 | LADEVYQDNVY | 2 | Homo sapiens, Mus musculus | Y302 | LADEVYQENVY | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Y302 | LADEVYQNNIY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y302 | IADEVYQENIF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) |
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